ESPE Abstracts

Background: Disorders of sex development (DSD) due to mutations in the NR5A1 (SF1) gene result in a highly variable phenotype.Objective: To report the clinical phenotype and the molecular/structural characteristics of the gene-protein product arising from three novel mutations of the NR5A1 (SF1) gene found in patients presenting with 46,XY DSD.Method: Phenotype determined from interrogation of clinical case notes. Interpre...

Background: Experience with nasogastric administration of oral DDAVP [desamino-D-arginine-8-vasopressin] lyophilisate (ODL) for central diabetes insipidus (CDI) in disabled children with swallowing coordination difficulties is limited.Objective: We aimed to assess the safety and efficacy of nasogastric use of ODL in disabled children with CDI.Methods: Clinical, laboratory and neuro...

Background: The concurrence of transverse testicular ectopia (TTE) with persistent müllerian duct syndrome (PMDS) is extremely rare. Here, we report a case of TTE with PMDS in a 7-month-old male infant presenting with inguinal hernia and a novel homozygous mutation in the AMH gene. CASE REPORT: A 7-month-old male infant presented to pediatric surgery department with an inguinal hernia on the left side and bilateral undescended testis. During left herniotomy, tiss...

Background: The adaptative increase of serum thyrotropin (TSH) levels in obese subjects may affect the metabolic regulation of body tissues and thus promote an unfavorable cardiometabolic profile.Aim: To investigate the association between serum TSH, free thyroxine (FT4) and cardiometabolic risk factors in euthyroid obese children and adolescents.Material and Methods: Four hundred ninety-one Caucas...

Introduction: Differential diagnosis of thyroid hormone resistance (beta) and TSHoma should be made in patients with high free thyroxine (f-T4) and free triiodothyronine (f-T3) and non-suppressed thyroid stimulating hormone (TSH) levels. The aim of this study was to present the results of etiological research in a patient with Down syndrome who was clinically euthyroid and had high levels of f-T4, f-T3, normal TSH levels.Case</st...

The ability to differentiate human embryonal stem cells (hESC) and induced pluripotent stem cells (hiPSC) into virtually any cell type has enabled the creation of cellular models of diseases for which human cells are not readily accessible. Using these strategies, we have examined the molecular pathogenesis of monogenic forms of diabetes such as Wolfram’s syndrome and various MODYs using stem cell-derived insulin producing cells created from fibroblasts of patients with t...

Great controversy exists in regard to the timing and technical alternatives to perform feminizing genitoplasty in children. Opponents to an early approach argue that the reconstruction can be risky in terms of clitoral/vaginal function therefore surgery should be postponed until the patient herself can sign an informed consent and be aware of potential risks as well as confirms the desire to undergo the procedures. Such negative feelings in regard to early reconstruction are b...

Although craniopharyngiomas are of low-grade histological dignity and have good prognosis in terms of overall survival, survivors may suffer from devastating consequences caused by hypothalamic damage. Disease and/or treatment-related hypothalamic damage leads to disturbed hunger-satiety and thirst feelings, decreased energy expenditure, behavioral problems, disturbances of circadian rhythm, temperature dysregulation, and pituitary dysfunction. These patients are at great risk...

Background: Pubertal gynaecomastia is thought to be a clinical sign of an oestrogen-androgen imbalance, affecting up to 60% of boys. In most cases no underlying endocrinopathy can be identified. In boys, Anti-müllerian hormone (AMH) is produced by immature Sertoli cells and circulating level decreases as testosterone increases during pubertal maturation. In a previous cross sectional study we found significant lower levels of AMH in boys with pubertal gynaecomastia (Mieri...

Background: Being born small for gestational age (SGA) has been associated with a reduction in health-related quality of life (HRQoL) and more problem behaviour. Growth hormone (GH) treatment, which leads to a significant improvement in adult height (AH), improves HRQoL and decreases problem behavior in SGA children. However, such results are very limited in SGA adults who were treated with GH during childhood.Objective:...